ClinVar Miner

List of variants in gene ATRX reported by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 56
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HGVS dbSNP
NM_000489.5(ATRX):c.1041T>G (p.Ile347Met) rs199780997
NM_000489.5(ATRX):c.1168C>T (p.Arg390Cys)
NM_000489.5(ATRX):c.1183T>G (p.Phe395Val) rs1569539366
NM_000489.5(ATRX):c.1290A>G (p.Lys430=) rs1569539312
NM_000489.5(ATRX):c.12G>A (p.Glu4=) rs782765957
NM_000489.5(ATRX):c.1346C>G (p.Pro449Arg)
NM_000489.5(ATRX):c.1633C>G (p.Gln545Glu) rs35738915
NM_000489.5(ATRX):c.1694T>C (p.Ile565Thr) rs1557140924
NM_000489.5(ATRX):c.2066A>G (p.Gln689Arg) rs929951326
NM_000489.5(ATRX):c.228G>A (p.Ser76=) rs5959371
NM_000489.5(ATRX):c.2304G>C (p.Lys768Asn) rs1557139920
NM_000489.5(ATRX):c.2540T>C (p.Phe847Ser) rs45624939
NM_000489.5(ATRX):c.2595C>G (p.His865Gln) rs61752455
NM_000489.5(ATRX):c.2650G>A (p.Glu884Lys) rs200343648
NM_000489.5(ATRX):c.2720G>A (p.Arg907Gln) rs143413618
NM_000489.5(ATRX):c.2785= (p.Glu929=) rs3088074
NM_000489.5(ATRX):c.288A>G (p.Lys96=) rs45574238
NM_000489.5(ATRX):c.2922C>T (p.Ser974=) rs1476227727
NM_000489.5(ATRX):c.2970A>G (p.Glu990=)
NM_000489.5(ATRX):c.3152A>G (p.Asp1051Gly) rs1557138081
NM_000489.5(ATRX):c.3211G>A (p.Gly1071Arg) rs143621153
NM_000489.5(ATRX):c.3395T>C (p.Ile1132Thr) rs587780285
NM_000489.5(ATRX):c.3541G>C (p.Val1181Leu) rs61758732
NM_000489.5(ATRX):c.3555G>C (p.Lys1185Asn) rs782696086
NM_000489.5(ATRX):c.3913A>C (p.Lys1305Gln) rs782708557
NM_000489.5(ATRX):c.4031A>G (p.Lys1344Arg) rs782556767
NM_000489.5(ATRX):c.4035G>A (p.Leu1345=) rs111725949
NM_000489.5(ATRX):c.4047C>T (p.Asp1349=)
NM_000489.5(ATRX):c.4073C>T (p.Thr1358Ile) rs1557124033
NM_000489.5(ATRX):c.4130A>G (p.Glu1377Gly) rs782553301
NM_000489.5(ATRX):c.4239A>G (p.Glu1413=) rs141974120
NM_000489.5(ATRX):c.4275G>A (p.Arg1425=) rs1569535653
NM_000489.5(ATRX):c.4365_4367GGA[4] (p.Glu1464del) rs398123423
NM_000489.5(ATRX):c.4635C>A (p.Thr1545=) rs148975763
NM_000489.5(ATRX):c.4659T>C (p.His1553=) rs25641
NM_000489.5(ATRX):c.4810-3T>C
NM_000489.5(ATRX):c.5271G>C (p.Glu1757Asp) rs141240580
NM_000489.5(ATRX):c.5311G>C (p.Gly1771Arg) rs1569531574
NM_000489.5(ATRX):c.5349A>G (p.Pro1783=)
NM_000489.5(ATRX):c.5540A>T (p.Tyr1847Phe) rs1057521987
NM_000489.5(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799
NM_000489.5(ATRX):c.5686A>G (p.Lys1896Glu) rs1569528925
NM_000489.5(ATRX):c.570T>G (p.Pro190=) rs188831993
NM_000489.5(ATRX):c.6003G>A (p.Trp2001Ter) rs1557082399
NM_000489.5(ATRX):c.6149T>C (p.Ile2050Thr) rs122445110
NM_000489.5(ATRX):c.6409G>A (p.Ala2137Thr) rs1557060350
NM_000489.5(ATRX):c.6489T>C (p.Tyr2163=)
NM_000489.5(ATRX):c.659G>A (p.Cys220Tyr) rs122445111
NM_000489.5(ATRX):c.6640T>G (p.Leu2214Val)
NM_000489.5(ATRX):c.6869A>G (p.Asn2290Ser) rs368498507
NM_000489.5(ATRX):c.6887A>G (p.Asn2296Ser) rs782274478
NM_000489.5(ATRX):c.7083C>T (p.Asn2361=) rs3027525
NM_000489.5(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_000489.5(ATRX):c.740A>G (p.Asn247Ser) rs797044865
NM_000489.5(ATRX):c.7432C>G (p.Pro2478Ala) rs199543136
NM_000489.5(ATRX):c.846C>T (p.Ser282=) rs148015780

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